ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.3634A>G (p.Arg1212Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003066429 SCV003445334 benign not provided 2023-10-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738658 SCV005355628 uncertain significance COL4A4-related disorder 2024-06-04 no assertion criteria provided clinical testing The COL4A4 c.3634A>G variant is predicted to result in the amino acid substitution p.Arg1212Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.050% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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